C1orf94 (chromosome 1 open reading frame 94)

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Gene Gene information from NCBI Gene database.
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Entrez ID 84970
Gene name Chromosome 1 open reading frame 94
Gene symbol C1orf94
Synonyms (NCBI Gene)
-
Chromosome 1
Chromosome location 1p35.1
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
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GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16189514, 16713569, 21516116, 23088713, 24722188, 25416956, 25910212, 26871637, 29892012, 31515488, 32296183, 32814053
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6P1W5
Protein name Uncharacterized protein C1orf94
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15752 DUF4688 199 → 598 Domain of unknown function (DUF4688) Family
Sequence 
MRGGGGCVLALGGQRGFQKERRRMASGNGLPSSSALVAKGPCALGPFPRYIWIHQDTPQD
SLDKTCHEIWKRVQGLPEASQPWTSMEQLSVPVVGTLRGNELSFQEEALELSSGKDEISL
LVEQEFLSLTKEHSILVEESSGELEVPGSSPEGTRELAPCILAPPLVAGSNERPRASIIV
GDKLLKQKVAMPVISSRQDCDSATSTVTDILCAAEVKSSKGTEDRGRILGDSNLQVSKLL
SQFPLKSTETSKVPDNKNVLDKTRVTKDFLQDNLFSGPGPKEPTGLSPFLLLPPRPPPAR
PDKLPELPAQKRQLPVFAKICSKPKADPAVERHHLMEWSPGTKEPKKGQGSLFLSQWPQS
QKDACGEEGCCDAVGTASLTLPPKKPTCPAEKNLLYEFLGATKNPSGQPRLRNKVEVDGP
ELKFNAPVTVADKNNPKYTGNVFTPHFPTAMTSATLNQPLWLNLNYPPPPVFTNHSTFLQ
YQGLYPQQAARMPYQQALHPQLGCYSQQVMPYNPQQMGQQIFRSSYTPLLSYIPFVQPNY
PYPQRTPPKMSANPRDPPLMAGDGPQYLFPQGYGFGSTSGGPLMHSPYFSSSGNGINF
Sequence length 598
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (13)
Phenotype Name Clinical Significance Source Reference Evidence Score
CENTRAL NERVOUS SYSTEM CANCER — GWAS catalog 36810956
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EPILEPSY — GWAS catalog 22949513
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GENERALISED EPILEPSY — GWAS catalog 22949513
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME — GWAS catalog 36810956
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLIOMA — GWAS catalog 36810956
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Proliferative diabetic retinopathy Proliferative Diabetic Retinopathy GWASCAT_DG 30487263
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
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IQCM 2 shared diseasesEpilepsy, Generalized epilepsy 2 shared evidence sourcesGWAS catalog (Epilepsy), GWAS catalog (Generalized epilepsy) Related via 2 shared diseases including Epilepsy, Generalized epilepsy — evidence mostly GWAS catalog. KRTAP8-1 2 shared diseasesEpilepsy, Generalized epilepsy 2 shared evidence sourcesGWAS catalog (Epilepsy), GWAS catalog (Generalized epilepsy) Related via 2 shared diseases including Epilepsy, Generalized epilepsy — evidence mostly GWAS catalog. OGA 2 shared diseasesEpilepsy, Generalized epilepsy 2 shared evidence sourcesGWAS catalog (Epilepsy), GWAS catalog (Generalized epilepsy) Related via 2 shared diseases including Epilepsy, Generalized epilepsy — evidence mostly GWAS catalog. STMND1 2 shared diseasesEpilepsy, Generalized epilepsy 2 shared evidence sourcesGWAS catalog (Epilepsy), GWAS catalog (Generalized epilepsy) Related via 2 shared diseases including Epilepsy, Generalized epilepsy — evidence mostly GWAS catalog. CDK5RAP3 2 shared diseasesEpilepsy, Generalized epilepsy 2 shared evidence sourcesGWAS catalog (Epilepsy), GWAS catalog (Generalized epilepsy) Related via 2 shared diseases including Epilepsy, Generalized epilepsy — evidence mostly GWAS catalog.
Major depressive disorder Linked via 2 of 5 related genesIQCM, STMND1 Colorectal cancer Linked via 1 of 5 related genesIQCM Insomnia Linked via 1 of 5 related genesIQCM Venous thromboembolism Linked via 1 of 5 related genesIQCM Alzheimer disease Linked via 1 of 5 related genesOGA